Expanding the Mutation Spectrum of Non-Syndromic Retinitis Pigmentosa in Consanguineous Pakistani Families: Unraveling Novel Pathogenic Variants in RP1, PDE6B, and PRCD Genes for Precision Diagnosis

Authors

• Tayyaba Shan
• Nimra Mukhtar
• Sayyed Hammad Ullah
• Asad Ullah
• Asfandyar Ahmad Khan
• Yumei Li
• Meng Wang
• Raeesa Tehreem
• Amtul Aziz
• Kiran Afshan
• Rui Chen
• Sabika Firasat

Language

English

Publication Date

4-29-2026

Journal

Genes

DOI

10.3390/genes17050529

PMID

42194986

PMCID

PMC13205176

PubMedCentral® Posted Date

4-29-2026

PubMedCentral® Full Text Version

Post-print

Keywords

Humans, Retinitis Pigmentosa, Pakistan, Cyclic Nucleotide Phosphodiesterases, Type 6, Consanguinity, Pedigree, Eye Proteins, Mutation, Female, Male, Membrane Proteins, Gene Frequency, Microtubule-Associated Proteins

Published Open-Access

yes

Recommended Citation

Shan, Tayyaba; Mukhtar, Nimra; Ullah, Sayyed Hammad; et al., "Expanding the Mutation Spectrum of Non-Syndromic Retinitis Pigmentosa in Consanguineous Pakistani Families: Unraveling Novel Pathogenic Variants in RP1, PDE6B, and PRCD Genes for Precision Diagnosis" (2026). Faculty, Staff and Students Publications. 6905.
https://digitalcommons.library.tmc.edu/baylor_docs/6905